| GENE NAME | KMT2C |
| CHROMOSOME | 7 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000055609 |
| UNIPROT ACCESSION NUMBER | Q8NEZ4 |
| GO MOLECULAR FUNCTION | ['DNA binding', 'histone binding', 'protein binding', 'RNA binding', 'transcription coactivator activity', 'histone methyltransferase activity (H3-K4 specific)', 'acyltransferase activity', 'metal ion binding', 'histone methyltransferase activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa00310; hsa01100; R-HSA-1266738; R-HSA-212436; R-HSA-3214841; R-HSA-3247509; R-HSA-4839726; R-HSA-5617472; R-HSA-5619507; R-HSA-73857; R-HSA-74160; R-HSA-8878171; R-HSA-8936459 |
| 2 combinations linked to KMT2C | OLI1709; OLI333 |
| 2 variants linked to KMT2C | KMT2C:c.10432C>G, p.Gln3478Glu; KMT2C:c.2573G>T, p.Trp858Leu |
| 2 diseases linked to KMT2C | Rare pervasive developmental disorder; Amyotrophic lateral sclerosis |